Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Joke Verheij is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Haer-Wigman, L., den Ouden, A., Derks, R., van Genderen, M. M., Lugtenberg, D., Verheij, J., Vijzelaar, R., Yntema, H. G., Vissers, L. E. L. M. & Neveling, K., 4-May-2024, In: npj Genomic Medicine. 9, 1, 4 p., 29.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile31 Downloads (Pure) -
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A. & Heon, E. & 30 others, , 13-Apr-2023, In: Human Genetics and Genomics Advances. 4, 2, 16 p., 100181.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Citations (Scopus)53 Downloads (Pure) -
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Haer-Wigman, L., den Ouden, A., van Genderen, M. M., Kroes, H. Y., Verheij, J., Smailhodzic, D., Hoekstra, A. S., Vijzelaar, R., Blom, J., Derks, R., Tjon-Pon-Fong, M., Yntema, H. G., Nelen, M. R., Vissers, L. E. L. M., Lugtenberg, D. & Neveling, K., Dec-2022, In: npj Genomic Medicine. 7, 1, 10 p., 65.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile10 Citations (Scopus)137 Downloads (Pure) -
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy
Plantinga, M., Zwienenberg, L., van Dijk, E., Breet, H., Diphoorn, J., El Mecky, J., Bouman, K., Verheij, J., Birnie, E., Ranchor, A. V., Corsten-Janssen, N. & van Langen, I. M., May-2022, In: Prenatal Diagnosis. 42, 6, p. 762-774 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile19 Citations (Scopus)183 Downloads (Pure) -
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. K., Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M. & Wennekes, R. & 12 others, , Apr-2021, In: Genetics in Medicine. 23, 4, p. 645-652 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Citations (Scopus)198 Downloads (Pure)
Datasets
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Additional file 1: Table S1. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Shepherd, I. T. (Contributor), Brooks, A. S. (Contributor), van Ham, T. J. (Contributor), Schriemer, D. (Contributor), Bleda, M. (Contributor), Chakravarti, A. (Contributor), So, M.-T. (Contributor), Verheij, J. (Contributor), Berrios, C. (Contributor), Le, T.-L. (Contributor), Dopazo, J. (Contributor), Cheng, W. W. (Contributor), Tam, P. K. H. (Contributor), Matera, I. (Contributor), Sham, P. C. (Contributor), van den Hout, M. C. G. N. (Contributor), Hofstra, R. M. W. (Contributor), Ceccherini, I. (Contributor), Lui, V. C. H. (Contributor), Sribudiani, Y. (Contributor), Antiňolo, G. (Contributor), Jalloh, B. (Contributor), van IJcken, W. F. J. (Contributor), Chauhan, R. K. (Contributor), Luzón-Toro, B. (Contributor), Lyonnet, S. (Contributor), Borrego, S. (Contributor), Amiel, J. (Contributor), Pelet, A. (Contributor), Griseri, P. (Contributor), Garcia-Barceló, M.-M. (Contributor), Gui, H. (Contributor), Tang, C. S. M. (Contributor), Burns, A. J. (Contributor), Brouwer, R. W. W. (Contributor), Ruiz-Ferrer, M. (Contributor), Ngan, E. S. W. (Contributor), Eggen, B. J. L. (Contributor), van der Linde, H. C. (Contributor) & Cherny, S. S. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d4.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d4.v1
Dataset
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Additional file 7: Table S6. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Ruiz-Ferrer, M. (Contributor), Sham, P. C. (Contributor), Gui, H. (Contributor), Antiňolo, G. (Contributor), Griseri, P. (Contributor), Garcia-Barceló, M.-M. (Contributor), Tang, C. S. M. (Contributor), Le, T.-L. (Contributor), Brouwer, R. W. W. (Contributor), Matera, I. (Contributor), Cheng, W. W. (Contributor), Jalloh, B. (Contributor), Amiel, J. (Contributor), Cherny, S. S. (Contributor), Berrios, C. (Contributor), Verheij, J. (Contributor), Tam, P. K. H. (Contributor), Pelet, A. (Contributor), Lui, V. C. H. (Contributor), Borrego, S. (Contributor), Bleda, M. (Contributor), Sribudiani, Y. (Contributor), So, M.-T. (Contributor), Lyonnet, S. (Contributor), Ngan, E. S. W. (Contributor), van IJcken, W. F. J. (Contributor), Burns, A. J. (Contributor), Eggen, B. J. L. (Contributor), Chakravarti, A. (Contributor), Schriemer, D. (Contributor), Luzón-Toro, B. (Contributor), Hofstra, R. M. W. (Contributor), van Ham, T. J. (Contributor), Ceccherini, I. (Contributor), Shepherd, I. T. (Contributor), Dopazo, J. (Contributor), Brooks, A. S. (Contributor), van der Linde, H. C. (Contributor), Chauhan, R. K. (Contributor) & van den Hout, M. C. G. N. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d10.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d10.v1
Dataset
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Additional file 11: Table S10. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Pelet, A. (Contributor), Antiňolo, G. (Contributor), Brouwer, R. W. W. (Contributor), van den Hout, M. C. G. N. (Contributor), Ngan, E. S. W. (Contributor), Chauhan, R. K. (Contributor), Hofstra, R. M. W. (Contributor), Lui, V. C. H. (Contributor), Shepherd, I. T. (Contributor), Ruiz-Ferrer, M. (Contributor), Garcia-Barceló, M.-M. (Contributor), Sham, P. C. (Contributor), van Ham, T. J. (Contributor), Borrego, S. (Contributor), Brooks, A. S. (Contributor), Cherny, S. S. (Contributor), Bleda, M. (Contributor), Jalloh, B. (Contributor), van IJcken, W. F. J. (Contributor), Sribudiani, Y. (Contributor), Chakravarti, A. (Contributor), Gui, H. (Contributor), Tam, P. K. H. (Contributor), Burns, A. J. (Contributor), Eggen, B. J. L. (Contributor), Le, T.-L. (Contributor), Luzón-Toro, B. (Contributor), Cheng, W. W. (Contributor), van der Linde, H. C. (Contributor), Griseri, P. (Contributor), Dopazo, J. (Contributor), Lyonnet, S. (Contributor), Berrios, C. (Contributor), Verheij, J. (Contributor), Ceccherini, I. (Contributor), Tang, C. S. M. (Contributor), Schriemer, D. (Contributor), So, M.-T. (Contributor), Matera, I. (Contributor) & Amiel, J. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d2.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d2.v1
Dataset
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Additional file 3: Table S2. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Garcia-Barceló, M.-M. (Contributor), Chauhan, R. K. (Contributor), van den Hout, M. C. G. N. (Contributor), Sribudiani, Y. (Contributor), Chakravarti, A. (Contributor), Verheij, J. (Contributor), Bleda, M. (Contributor), Jalloh, B. (Contributor), Berrios, C. (Contributor), Eggen, B. J. L. (Contributor), Luzón-Toro, B. (Contributor), Cheng, W. W. (Contributor), Matera, I. (Contributor), Pelet, A. (Contributor), Ngan, E. S. W. (Contributor), Ruiz-Ferrer, M. (Contributor), Tam, P. K. H. (Contributor), Gui, H. (Contributor), Griseri, P. (Contributor), Brouwer, R. W. W. (Contributor), Cherny, S. S. (Contributor), van IJcken, W. F. J. (Contributor), Brooks, A. S. (Contributor), van der Linde, H. C. (Contributor), Lyonnet, S. (Contributor), Schriemer, D. (Contributor), Sham, P. C. (Contributor), So, M.-T. (Contributor), Ceccherini, I. (Contributor), Burns, A. J. (Contributor), Tang, C. S. M. (Contributor), Amiel, J. (Contributor), Antiňolo, G. (Contributor), Borrego, S. (Contributor), Shepherd, I. T. (Contributor), van Ham, T. J. (Contributor), Lui, V. C. H. (Contributor), Le, T.-L. (Contributor), Dopazo, J. (Contributor) & Hofstra, R. M. W. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d6.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d6.v1
Dataset
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Additional file 4: Table S3. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Sham, P. C. (Contributor), Tang, C. S. M. (Contributor), Brooks, A. S. (Contributor), Cheng, W. W. (Contributor), Ruiz-Ferrer, M. (Contributor), van IJcken, W. F. J. (Contributor), van der Linde, H. C. (Contributor), Schriemer, D. (Contributor), Borrego, S. (Contributor), Bleda, M. (Contributor), Cherny, S. S. (Contributor), Jalloh, B. (Contributor), Hofstra, R. M. W. (Contributor), van den Hout, M. C. G. N. (Contributor), Berrios, C. (Contributor), Ceccherini, I. (Contributor), Dopazo, J. (Contributor), Matera, I. (Contributor), Lyonnet, S. (Contributor), van Ham, T. J. (Contributor), Pelet, A. (Contributor), Burns, A. J. (Contributor), Chakravarti, A. (Contributor), Griseri, P. (Contributor), Chauhan, R. K. (Contributor), Gui, H. (Contributor), So, M.-T. (Contributor), Lui, V. C. H. (Contributor), Sribudiani, Y. (Contributor), Le, T.-L. (Contributor), Ngan, E. S. W. (Contributor), Brouwer, R. W. W. (Contributor), Shepherd, I. T. (Contributor), Verheij, J. (Contributor), Amiel, J. (Contributor), Antiňolo, G. (Contributor), Garcia-Barceló, M.-M. (Contributor), Eggen, B. J. L. (Contributor), Tam, P. K. H. (Contributor) & Luzón-Toro, B. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d7.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d7.v1
Dataset